PAX1
From Wikipedia, the free encyclopedia
| Paired box 1 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Identifiers | ||||||||
| Symbols | PAX1; HUP48 | |||||||
| External IDs | OMIM: 167411 MGI: 97485 HomoloGene: 4514 GeneCards: PAX1 Gene | |||||||
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| RNA expression pattern | ||||||||
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| More reference expression data | ||||||||
| Orthologs | ||||||||
| Species | Human | Mouse | ||||||
| Entrez | 5075 | 18503 | ||||||
| Ensembl | ENSG00000125813 | ENSMUSG00000037034 | ||||||
| UniProt | P15863 | P09084 | ||||||
| RefSeq (mRNA) | NM_001257096 | NM_008780 | ||||||
| RefSeq (protein) | NP_001244025 | NP_032806 | ||||||
| Location (UCSC) | Chr 20: 21.69 – 21.7 Mb |
Chr 2: 147.36 – 147.39 Mb |
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| PubMed search | [1] | [2] | ||||||
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.[1][2]
Contents |
[edit] Interactions
PAX1 has been shown to interact with MEOX1[3] and MEOX2.[3]
[edit] See also
[edit] References
- ^ Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I (Dec 1992). "Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH)". Genomics 14 (3): 740–4. doi:10.1016/S0888-7543(05)80177-6. PMID 1358810.
- ^ "Entrez Gene: PAX1 paired box gene 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5075.
- ^ a b Stamataki, D; Kastrinaki M, Mankoo B S, Pachnis V, Karagogeos D (Jun. 2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. (Netherlands) 499 (3): 274–8. doi:10.1016/S0014-5793(01)02556-X. ISSN 0014-5793. PMID 11423130.
[edit] Further reading
- Bannykh SI, Emery SC, Gerber JK, et al. (2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.". Am. J. Med. Genet. A 120 (2): 241–6. doi:10.1002/ajmg.a.20192. PMID 12833407.
- Burri M, Tromvoukis Y, Bopp D, et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183–90. PMC 400932. PMID 2501086.
- Smith CA, Tuan RS (1994). "Human PAX gene expression and development of the vertebral column". Clin. Orthop. Relat. Res. (302): 241–50. PMID 7909508.
- Stapleton P, Weith A, Urbánek P, et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
- Hol FA, Geurds MP, Chatkupt S, et al. (1996). "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida". J. Med. Genet. 33 (8): 655–60. doi:10.1136/jmg.33.8.655. PMC 1050699. PMID 8863157.
- Wilm B, Dahl E, Peters H, et al. (1998). "Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8692–7. doi:10.1073/pnas.95.15.8692. PMC 21138. PMID 9671740.
- Stamataki D, Kastrinaki M, Mankoo BS, et al. (2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. 499 (3): 274–8. doi:10.1016/S0014-5793(01)02556-X. PMID 11423130.
- Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Eraly SA, Hamilton BA, Nigam SK (2003). "Organic anion and cation transporters occur in pairs of similar and similarly expressed genes". Biochem. Biophys. Res. Commun. 300 (2): 333–42. doi:10.1016/S0006-291X(02)02853-X. PMID 12504088.
- McGaughran JM, Oates A, Donnai D, et al. (2004). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. 11 (6): 468–74. doi:10.1038/sj.ejhg.5200987. PMID 12774041.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Giampietro PF, Raggio CL, Reynolds CE, et al. (2005). "An analysis of PAX1 in the development of vertebral malformations". Clin. Genet. 68 (5): 448–53. doi:10.1111/j.1399-0004.2005.00520.x. PMID 16207213.
[edit] External links
- PAX1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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